chr8:27291668:A>G Detail (hg19) (PTK2B)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:27,291,668-27,291,668 |
| hg38 | chr8:27,434,151-27,434,151 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_173175.2:c.1145+19A>G | |
| NM_173174.2:c.1145+19A>G | ||
| NM_004103.4:c.1145+19A>G |
Summary
MGeND
| Clinical significance |
Benign
|
| Variant entry | 0 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.003 |
| ToMMo:0.004 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.002 |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Benign
|
2018/05/23 | Aged, 100 and over |
germline
|
MGS000013
(TMGS000027) |
Hiroshi Mori | Osaka City University |
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg19
- Position
- chr8:27,291,668-27,291,668
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 837
- Mean of sample read depth (HGVD)
- 41.12
- Standard deviation of sample read depth (HGVD)
- 16.84
- Number of reference allele (HGVD)
- 1669
- Number of alternative allele (HGVD)
- 5
- Allele Frequency (HGVD)
- 0.002986857825567503
- Gene Symbol (HGVD)
- PTK2B
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs201484400
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0035
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 58
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 13
- East Asian Heterozygous Counts (ExAC)
- 13
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0015021955165241507
- Chromosome Counts in All Race (ExAC)
- 121332
- Allele Counts in All Race (ExAC)
- 33
- Heterozygous Counts in All Race (ExAC)
- 33
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 2.7198101078033823E-4
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